TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

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X-linked intellectual disability update 2017

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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

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Chromatin in nervous system development and disease

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A Drosophila Model of Intellectual Disability Caused by Mutations in the Histone Demethylase KDM5

(2018) Sumaira Zamurrad et al.   Cell Reports

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

(2017) Adam Ameur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transcription of Nearly All Yeast RNA Polymerase II-Transcribed Genes Is Dependent on Transcription Factor TFIID

(2017) Linda Warfield et al.   MOLECULAR CELL

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inTAF1

(2017) D. Cristopher Bragg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

(2016) Nathalie Fieremans et al.   HUMAN MUTATION

A Role for the Chromatin-Remodeling FactorBAZ1Ain Neurodevelopment

(2016) Ammar Zaghlool et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

CHOPCHOP v2: a web tool for the next generation of CRISPR genome engineering

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COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity

(2016) Hye Rim Oh et al.   PATHOLOGY & ONCOLOGY RESEARCH

Euchromatin histone methyltransferase 1 regulates cortical neuronal network development

(2016) Marijn Bart Martens et al.   Scientific Reports

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

(2015) Jason A. O’Rawe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

(2015) Gaurav K. Varshney et al.   GENOME RESEARCH

IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

(2015) Raman Kumar et al.   HUMAN MOLECULAR GENETICS

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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CRISPR-STAT: an easy and reliable PCR-based method to evaluate target-specific sgRNA activity

(2015) Blake Carrington et al.   NUCLEIC ACIDS RESEARCH

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

(2015) Tejasvi S. Niranjan et al.   PLoS One

GO2MSIG, an automated GO based multi-species gene set generator for gene set enrichment analysis

(2014) Justin Andrew Powell   BMC BIOINFORMATICS

Crystal structure of a TAF1-TAF7 complex in human transcription factor IID reveals a promoter binding module

(2014) Hui Wang et al.   CELL RESEARCH

Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells

(2014) Paul L. Severson et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

5meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation

(2014) Filipe Brum Machado et al.   PLoS One

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

(2013) Yongbo Wang et al.   EMBO Molecular Medicine

The architecture of human general transcription factor TFIID core complex

(2013) Christoph Bieniossek et al.   NATURE

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

(2013) Shlomit Hellman-Aharony et al.   PEDIATRIC NEUROLOGY

Efficient Methods for Targeted Mutagenesis in Zebrafish Using Zinc-Finger Nucleases: Data from Targeting of Nine Genes Using CompoZr or CoDA ZFNs

(2013) Raman Sood et al.   PLoS One

Sustained expression of a neuron-specific isoform of the Taf1 gene in development stages and aging in mice

(2012) Jamiyansuren Jambaldorj et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism

(2012) Thilo Herzfeld et al.   HUMAN MOLECULAR GENETICS

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

(2012) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

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(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Unexpected roles for core promoter recognition factors in cell-type-specific transcription and gene regulation

(2010) James A. Goodrich et al.   NATURE REVIEWS GENETICS

Nestin Is Essential for Zebrafish Brain and Eye Development through Control of Progenitor Cell Apoptosis

(2010) Hua-Ling Chen et al.   PLoS One

Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation

(2010) Daniele Merico et al.   PLoS One

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of nonneutral substitution rates on mammalian phylogenies

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols